Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.320 | 11 | 61393965 | missense variant | G/A;T | snv | 8.0E-06; 1.7E-04 | 0.800 | 1.000 | 4 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.320 | 11 | 61397797 | stop gained | C/A;G;T | snv | 2.8E-03; 4.0E-06; 8.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.280 | 11 | 61397774 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.280 | 11 | 61397885 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.320 | 11 | 61392667 | splice donor variant | T/C | snv | 7.4E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.320 | 11 | 61393969 | frameshift variant | G/- | del | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.320 | 11 | 61393229 | splice acceptor variant | A/G | snv | 7.3E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.320 | 11 | 61397880 | stop gained | C/A;T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.320 | 11 | 61393883 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 11 | 61393908 | frameshift variant | ACCTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 11 | 61397860 | frameshift variant | -/TA | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 11 | 61393970 | frameshift variant | T/-;TT | delins | 4.0E-06 | 0.700 | 0 |